基质内透镜移植治疗着色性干皮病患者的角膜巩膜混合性血管瘤：一例报告
Treatment of corneoscleral mixed hemangioma by intrastromal lenticule transplantation in a case of xeroderma pigmentosum: a case report.
作者信息
Wang Yingwei, Cai Li, Feng Hua, Wu Xiaofei, Ke Hongmin, Ma Jerry, Tang Wanmei, Chen Kunling, Wang Qiong
机构信息
Department of Ophthalmology, Xijing Hospital, Airforce Military Medical University, Xian, China.
Department of Ophthalmology, Shenzhen University General Hospital, Shenzhen University Clinical Medical Academy, Shenzhen, China.
出版信息
BMC Ophthalmol. 2025 May 7;25(1):277. doi: 10.1186/s12886-025-04087-8.
BACKGROUND
Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disease. The ocular manifestations in XP patients usually include severe photophobia, conjunctivitis, corneal opacification, ocular surface squamous neoplasia (OSSN) which often appears in the palpebral fissure area. In addition, there are other accompanying ocular surface lesions that require clinical attention.
CASE PRESENTATION
We report a unique case of Xeroderma Pigmentosum (XP) with a progressive corneoscleral neoplasm, which become bigger during 6 years of follow-up. The patient was diagnosed with corneoscleral mixed hemangioma with XPC genotype, and was successfully treated by intrastromal lenticule transplantation obtained from small-incision lenticule extraction.
CONCLUSIONS
The corneoscleral neoplasm of XP is rarely reported before, treatment should be personalized according to the disease condition.
背景
着色性干皮病（XP）是一种罕见的常染色体隐性皮肤病。XP患者的眼部表现通常包括严重畏光、结膜炎、角膜混浊、眼表面鳞状上皮肿瘤（OSSN），后者常出现在睑裂区。此外，还有其他伴随的眼表病变需要临床关注。
病例报告
我们报告了一例独特的着色性干皮病（XP）病例，伴有进行性角巩膜肿瘤，在6年的随访期间肿瘤逐渐增大。该患者被诊断为具有XPC基因型的角巩膜混合性血管瘤，并通过从小切口透镜切除术获取的基质内透镜移植成功治疗。
结论
XP的角巩膜肿瘤此前鲜有报道，治疗应根据病情个体化进行。
Zotero 插件